Severe microcephaly
Gene: CENPFEnsemblGeneIds (GRCh38): ENSG00000117724
EnsemblGeneIds (GRCh37): ENSG00000117724
OMIM: 600236, Gene2Phenotype
CENPF is in 16 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Alice Gardham (Genomics England)
Mutations identified in at least three families. Gene on expert listCreated: 12 Jan 2017, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stromme syndrome 243605
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Other
- Expert list
- Phenotypes
-
- Stromme syndrome, OMIM:243605
- Microcephalic primordial dwarfism
- OMIM
- 600236
- Clinvar variants
- Variants in CENPF
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- DDG2P
- Fetal anomalies
- Hydrocephalus
- Respiratory ciliopathies including non-CF bronchiectasis
- Skeletal ciliopathies
- Neurological ciliopathies
- Structural eye disease
- Severe microcephaly
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CENPF were changed from MPD; microcephalic primordial dwarfism; Stromme syndrome, 243605; Microcephaly to Stromme syndrome, OMIM:243605; Microcephalic primordial dwarfism
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CENPF.
panel promoted to version 1
Rebecca Foulger (Genomics England curator)2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for CENPF were set to 25564561
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance, Added New Source
Rebecca Foulger (Genomics England curator)CENPF was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene CENPF was set to BIALLELIC, autosomal or pseudoautosomal
Created
Rebecca Foulger (Genomics England curator)CENPF was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)CENPF was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list